Tessa M A Peters, Udo F H Engelke, Siebolt de Boer, Joris T G Reintjes, Jean-Baptiste Roullet, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Mirjam M C Wamelink, Rafael Artuch, Ivo Barić, Jona Merx, Thomas J Boltje, Jonathan Martens, Michèl A A P Willemsen, Marcel M Verbeek, Ron A Wevers, K Michael Gibson, Karlien L M Coene
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare neurometabolic disorder caused by disruption of the gamma-aminobutyric acid (GABA) pathway. A more detailed understanding of its pathophysiology, beyond the accumulation of GABA and gamma-hydroxybutyric acid (GHB), will increase our understanding of the disease and may support novel therapy development. To this end, we compared biochemical body fluid profiles from SSADHD patients with controls using next-generation metabolic screening (NGMS)...
July 16, 2023: Journal of Inherited Metabolic Disease